A commentary on the President's Council on Bioethics report: the changing moral focus of newborn screening.

摘要

Newborn screening is a public health program that provides early identification of rare genetic, metabolic, hormonal, and functional disorders among infants, and follow-up care for those affected. Without treatment, the screened-for disorders can result in devastating health consequences, and in some cases, death. What began in the mid-1960s as an activity to identify a single rare but serious metabolic disease that occurred in about 1 in 25,000 newborns, phenylketonuria, has now dramatically expanded. This increase in recent years is due to a much better understanding of these rare conditions and the advent of new technology to reliably identify such rare disorders. These advances resulted in a 2005 report by the American College of Medical Genetics (ACMG), commissioned by the U.S. Health Resources and Services Administration that recommended mandatory newborn screening for a core panel of 29 disorders.1 The ACMG report, which was enthusiastically endorsed by the Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, the American Academy of Pediatrics and the March of Dimes, was an attempt to move the nation toward a uniform newborn screening panel for serious disorders for which effective preventive interventions and treatments exist.